Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. - Wikidata - awgldk - TriplyDB

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

http://www.wikidata.org/entity/Q35032831

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RTTN mutations link primary cilia function to organization of the human cerebral cortex BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies Congenital hypoplasia of the cerebellum: developmental causes and behavioral consequences Cilia in vertebrate development and disease Consensus paper: pathological role of the cerebellum in autism Cell cycle progression by the repression of primary cilia formation in proliferating cells Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome Acute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypes Mouse models of ciliopathies: the state of the art.Trafficking in and to the primary cilium.Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation Loss of Ahi1 affects early development by impairing BM88/Cend1-mediated neuronal differentiation Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing AHI-1: a novel signaling protein and potential therapeutic target in human leukemia and brain disorders.Fetal magnetic resonance imaging (MRI): a tool for a better understanding of normal and abnormal brain development.Alterations in the expression of a neurodevelopmental gene exert long-lasting effects on cognitive-emotional phenotypes and functional brain networks: translational evidence from the stress-resilient Ahi1 knockout mouse.Fetal MRI: An approach to practice: A review.The genetics of cerebellar malformations Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis Small organelle, big responsibility: the role of centrosomes in development and disease.Ciliopathies: the trafficking connection.The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells.Wnt signaling interacts with bmp and edn1 to regulate dorsal-ventral patterning and growth of the craniofacial skeleton.The ciliary transition zone: from morphology and molecules to medicine Scoring a backstage pass: mechanisms of ciliogenesis and ciliary access.Activating the translational repressor 4E-BP or reducing S6K-GSK3β activity prevents accelerated axon growth induced by hyperactive mTOR in vivo.Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome.Cilia, Wnt signaling, and the cytoskeleton Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Mutation spectrum of Joubert syndrome and related disorders among Arabs.Consensus Paper: Cerebellar Development.Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases Joubert syndrome: congenital cerebellar ataxia with the molar tooth Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.Neuronal cell type-specific alternative splicing is regulated by the KH domain protein SLM1.Developmental disorders of the midbrain and hindbrain.CEP proteins: the knights of centrosome dynasty.

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Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

http://www.wikidata.org/entity/Q35032831

description

2011 nî lūn-bûn

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2011 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2011 թվականի մայիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

@ast

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

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type

label

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

@ast

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

@en

prefLabel

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

@ast

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

@en

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Nature Medicine

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Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

@en

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Carrie M Louie

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Dipika J Gopal

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Jennifer L Silhavy

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Joon Kim

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Sahar N Saleem

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Yuko Williams

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The Ciliopathies: An Emerging Class of Human Genetic Disorders

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

The transcription factor Zfp423/OAZ is required for cerebellar development and CNS midline patterning.

The primary cilium as a cellular signaling center: lessons from disease

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

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726-731

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10.1038/NM.2380

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6

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17

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Madeline Lancaster

Bryan E Thacker

Joseph G Gleeson

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2011-05-29T00:00:00Z

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51175527

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21623382

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3110639

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